Sheffield babies take part in screenings for rare diseases

Date: 16/07/2012. Story submitted by: CarolineMc

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A pilot study starting this week will see thousands of Sheffield babies taking part in tests for five rare diseases.

Around 430,000 newborns across the country will be tested in the year-long study, which starts on Monday.

About 16 children are expected to be diagnosed and treated early enough to help them live normal lives.

The study will help determine if undiagnosed illnesses can be prevented from developing in children.

Working in partnership with the South Yorkshire Collaboration for Leadership in Applied Health Research and Care, Sheffield will co-ordinate the actions of six centres across the country.

In addition to Sheffield Children’s NHS Foundation Trust babies will also be screened at Leeds, Great Ormond Street, Manchester Children’s Hospital, Birmingham Children’s Hospital and Guy’s and St Thomas’.

Dr Jim Bonham, national lead for the project and director for newborn screening at the Sheffield Trust, said: “We are delighted to co-ordinate this pilot study knowing it has the potential to help families whose child would otherwise experience significant health problems.

“We want mums and dads to be prepared in case they are asked to take part when they have their visit from the midwife.

"We would like to reassure them that the ordinary routine blood sample will be used to test for these additional conditions so no extra inconvenience is caused for the baby or their parents.

Sheffield will screen 75,000 children during the project. Parents will be asked if they wish to participate before having their child’s blood tests included.

The tests will be for ‘metabolic’ conditions which are difficult to detect without screening and if unrecognised can eventually lead to children being severely handicapped.

They occur in fewer than one in 100,000 children but patients affected can benefit enormously from the early detection and treatment offered by screening.

Dr Bonham added: “If they are not diagnosed early in life sometimes the consequences can be quite devastating.

“We hope that this evaluation will provide valuable new insights making a big difference to the lives of a number of children and we value your support.”

Additional info

Address: Western Bank Sheffield South Yorkshire S10 2TH

Tags: Sheffield Children's NHS Foundation, Dr Jim Bonham